Abstract
A virtually complete deficiency of hypoxanthine guanine phosphoribosyltransferase leads to Lesch-Nyhan syndrome. The mutations of five Lesch-Nyhan families were identified using mRNA or genomic DNA obtained from peripheral mononuclear cells or established B-lymphoblasts. Prenatal diagnoses were carried out in 7 fetuses in 5 families by PCR-RFLP method and direct sequencing using genomic DNA from chorionic villi or amniotic fluid cells. The appearance of new restriction sites and the loss of restriction sites by mutations were effectively used for the diagnosis. Mutation was also confirmed by the existence of 6-thioguanine resistant cells, when amniotic fluid cells were used for the diagnosis.
